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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:
PA2830433591
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29792
ClinVar RCV Id:
RCV000022661
RCV000129682
RCV000222278
RCV000627790
RCV000484916
RCV001195106
RCV002247378
RCV001535706
RCV002490402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Glu256Lys
CA128649
NM_198178.3:c.766G>A