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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
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Canonical Allele Identifier:
CA1297368741
Gene: MMADHC-DT
HGNC
NCBI
LINC01931
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.149798800_149798803delinsATAT , CM000664.2:g.149798800_149798803delinsATAT
GRCh38
NC_000002.11:g.150655314_150655317delinsATAT , CM000664.1:g.150655314_150655317delinsATAT
GRCh37
NC_000002.10:g.150363560_150363563delinsATAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110240.1:n.536-49109_536-49106delinsATAT
(MMADHC-DT)
NR_145421.1:n.1341+5379_1341+5382delinsATAT
(LINC01931)
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