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: PA240640

Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 194590

ClinVar RCV Id: RCV000174989 RCV000307545 RCV000397231 RCV000364521 RCV004537372

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000115.1:p.Arg975Gln	CA240638 NM_000124.4:c.2924G>A