ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830087642
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2738621
ClinVar RCV Id:
RCV003581506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116056.3:p.Tyr213Ser
CA380962046
NM_032667.6:c.638A>C