ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829705056
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54529
ClinVar RCV Id:
RCV000077514
RCV000216581
RCV000587004
RCV001326176
RCV003230384
RCV003149702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Thr77Met
CA001539
NM_007298.3:c.230C>T