ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386256
Gene: BLOC1S6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434516
ClinVar RCV Id:
RCV000504443
RCV000649490
RCV003392328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036520.1:p.Ala12Thr
CA7544218
NM_012388.4:c.34G>A