ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697998
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240821
ClinVar RCV Id:
RCV000227535
RCV000662828
RCV003278713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu1748Phe
CA10583547
NM_007297.4:c.5242C>T