ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916014242
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
696616
ClinVar RCV Id:
RCV000863055
RCV001113445
RCV003955594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Met3637Val
CA6910372
NM_014363.6:c.10909A>G