ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697417
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433728
ClinVar RCV Id:
RCV000502853
RCV001075934
RCV001379713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Arg1704Gly
CA10591045
NM_007297.4:c.5110C>G