ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573090642
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1343647
ClinVar RCV Id:
RCV001844664
RCV002543324
RCV003163995
RCV003339758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Leu4541Met
CA6909936
NM_014363.6:c.13621T>A