ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828110431
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000458086
RCV001721228
RCV001808510
ClinVar Variation:
207321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Met541Val
CA318674
NM_001363759.2:c.1621A>G