ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826029481
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_001159753.1:p.Asn222Ser
CA5184148
NM_001166281.2:c.665A>G