ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413675
Gene: RB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000492333
RCV000691694
ClinVar Variation:
428739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000312.2:p.Asp394Asn
CA027779
NM_000321.3:c.1180G>A