ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915981565
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530408
ClinVar RCV Id:
RCV000636260
RCV003333092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Ala858Ser
CA375058064
NM_003127.4:c.2572G>T