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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2338442698
Gene: ERCC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.45459380G= , CM000681.2:g.45459380G=
GRCh38
NC_000019.9:g.45962638G= , CM000681.1:g.45962638G=
GRCh37
NC_000019.8:g.50654478G=
NCBI36
NG_015839.2:g.24449C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000423698.6:c.-8+19356C=
ENSP00000394875.2:n.-8+19356C=
XM_005258636.3:c.-8+19356C=
XP_005258693.1:n.-8+19356C=
XM_005258636.4:c.-8+19356C=
XP_005258693.1:n.-8+19356C=
XM_017026464.1:c.-8+19356C=
XP_016881953.1:n.-8+19356C=
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