ClinGen Allele Registry
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Canonical Allele Identifier:
PA915989817
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000384112
RCV000653223
RCV001168571
RCV003311738
RCV004542984
ClinVar Variation:
281408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159752.1:p.Asn232Ser
CA5184148
NM_001166280.2:c.695A>G