Canonical Allele Identifier: PA2826576632
Gene: SACS HGNC NCBI
ClinVar RCV:
RCV000157061
ClinVar Variation:
180208
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ser1050Pro
CA273726
NM_001278055.2:c.3148T>C