Allele Registry

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.

Canonical Allele Identifier: PA1139728763

Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 878949

ClinVar RCV Id: RCV001106028 RCV002555040

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333369.1:p.Ser1321Cys	CA5495223 NM_001346440.2:c.3962C>G