ClinGen Allele Registry
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Canonical Allele Identifier:
PA645484277
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000264621
RCV000318342
RCV000375317
RCV000994389
RCV002520594
ClinVar Variation:
300051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Asn1131Asp
CA5495358
NM_000124.4:c.3391A>G