Canonical Allele Identifier: PA2580444033
Gene: NEFH HGNC NCBI
ClinVar RCV:
RCV003100199
ClinVar Variation:
2167837
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066554.2:p.Thr53Met
CA10173975
NM_021076.4:c.158C>T